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PubPharm (138)
1
Gene Therapy for Genetic Syndromes : Understanding the Current State to Guide Future Care
enthalten in:
Biotech (Basel (Switzerland))
| 2024
von
Henderson, M.
|
Zieba, J.
|
Li, X.
| +9
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2
PEA15
loss of function and defective cerebral development in the domestic cat
enthalten in:
bioRxiv.org
| 2023
von
Graff, E.
|
Cochran, J.
|
Kaelin, C.
| +10
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3
GTPase splice variants RAC1 and RAC1B display isoform-specific differences in localization, prenylation, and interaction with the chaperone protein SmgGDS
enthalten in:
The Journal of biological chemistry
| 2023
von
Koehn, O.
|
Lorimer, E.
|
Unger, B.
| +7
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4
Structure-Function of the Human WAC Protein in GABAergic Neurons : Towards an Understanding of Autosomal Dominant DeSanto-Shinawi Syndrome
enthalten in:
Biology
| 2023
von
Rudolph, H.
|
Stafford, A.
|
Hwang, H.
| +3
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5
Understanding Insulin in the Age of Precision Medicine and Big Data : Under-Explored Nature of Genomics
enthalten in:
Biomolecules
| 2023
von
Cook, T.
|
Wilstermann, A.
|
Mitchell, J.
| +4
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6
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships
enthalten in:
Genes
| 2023
von
Underwood, A.
|
Rasicci, D.
|
Hinds, D.
| +29
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7
Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome : a case report
enthalten in:
BMC pediatrics
| 2023
von
Aniol, C.
|
Prokop, J.
|
Rajasekaran, S.
| +4
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8
Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report
enthalten in:
BMC pediatrics
| 2023
von
Aniol, C.
|
Prokop, J.
|
Rajasekaran, S.
| +4
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9
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
enthalten in:
Cold Spring Harbor molecular case studies
| 2022
von
Mark, P.
|
Murray, S.
|
Yang, T.
| +12
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10
Viral Induced Genetics Revealed by Multi-Dimensional Precision Medicine Transcriptional Workflow
enthalten in:
bioRxiv.org
| 2022
von
Prokop, J.
|
Gupta, R.
|
Leimanis, M.
| +32
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Journal of molecular modeling
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American journal of medical genetics. Part A
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Research Support, N.I.H., Extramural
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Sry
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6
Review
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RNAseq
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9007-49-2
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pediatrics
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CFTR protein, human
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